MCID: XRD010
MIFTS: 58

Xeroderma Pigmentosum, Variant Type malady

Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Xeroderma Pigmentosum, Variant Type

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Xeroderma Pigmentosum, Variant Type:

Name: Xeroderma Pigmentosum, Variant Type 52 48 12 68
Xeroderma Pigmentosum 11 71 23 48 24 25 12 50 39 13
Xpv 48 54 70
Xp 48 24 25
Xeroderma Pigmentosum with Normal Dna Repair Rates 48 70
Xeroderma Pigmentosum Variant Type 70 27
 
Desanctis-Cacchione Syndrome 24 25
Xeroderma Pigmentosa 48 24
Photosensitivity with Defective Dna Synthesis 48
Xeroderma Pigmentosum Variant 54
De Sanctis-Cacchione Syndrome 68

Characteristics:

Orphanet epidemiological data:

54
xpv:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult

HPO:

64
xeroderma pigmentosum, variant type:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 278750
Disease Ontology11 DOID:0050427
ICD1030 Q82.1
MeSH39 D014983
NCIt45 C3452
SNOMED-CT62 44600005
Orphanet54 ORPHA90342
UMLS via Orphanet69 C0432328, C1848410
MESH via Orphanet40 C536766
ICD10 via Orphanet31 Q82.1
MedGen37 C1848410
UMLS68 C0043346

Summaries for Xeroderma Pigmentosum, Variant Type

About this section
NIH Rare Diseases:48 Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop by the time a child is 2 years old. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least nine genes have been identified. The condition is inherited in an autosomal recessive manner. People with XP need total protection from sunlight. This includes protective clothing, sunscreen, and dark sunglasses when out in the sun. To prevent skin cancer, medications like retinoid creams may be prescribed. Skin cancers that do develop should be treated using standard practices. Last updated: 6/24/2016

MalaCards based summary: Xeroderma Pigmentosum, Variant Type, also known as xeroderma pigmentosum, is related to xeroderma pigmentosum, group c and xeroderma pigmentosum, group b, and has symptoms including cutaneous photosensitivity, poikiloderma and freckling. An important gene associated with Xeroderma Pigmentosum, Variant Type is POLH (DNA Polymerase Eta), and among its related pathways are RNA Polymerase I Promoter Escape and Fanconi anemia pathway. Affiliated tissues include skin and eye, and related mouse phenotypes are Increased G1 length, increased G2 length and Increased cell death HMECs cells.

Disease Ontology:11 An autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair.

UniProtKB/Swiss-Prot:70 Xeroderma pigmentosum variant type: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. XPV shows normal nucleotide excision repair, but an exaggerated delay in recovery of replicative DNA synthesis. Most patients with the variant type of xeroderma pigmentosum do not develop clinical symptoms and skin neoplasias until a later age. Clinical manifestations are limited to photo-induced deterioration of the skin and eyes.

Genetics Home Reference:25 Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system.

OMIM:52 Xeroderma pigmentosum is an autosomal recessive disorder characterized by increased sensitivity to sunlight and defects... (278750) more...

Wikipedia:71 Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder of DNA repair in which the... more...

GeneReviews for NBK1397

Related Diseases for Xeroderma Pigmentosum, Variant Type

About this section

Diseases in the Xeroderma Pigmentosum, Variant Type family:

Xeroderma Pigmentosum, Type 2 Xeroderma Pigmentosum, Type 9
Ddb2-Related Xeroderma Pigmentosum Ercc1-Related Xeroderma Pigmentosum
Ercc2-Related Xeroderma Pigmentosum Ercc3-Related Xeroderma Pigmentosum
Ercc4-Related Xeroderma Pigmentosum Ercc5-Related Xeroderma Pigmentosum
Polh-Related Xeroderma Pigmentosum Xpa-Related Xeroderma Pigmentosum
Xpc-Related Xeroderma Pigmentosum

Diseases related to Xeroderma Pigmentosum, Variant Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 120)
idRelated DiseaseScoreTop Affiliating Genes
1xeroderma pigmentosum, group c34.4DDB2, ERCC5, RAD23B, XPC
2xeroderma pigmentosum, group b34.0ERCC2, ERCC3
3de sanctis-cacchione syndrome33.1ERCC2, ERCC5, ERCC6
4cerebrooculofacioskeletal syndrome 132.4ERCC6, ERCC8
5cerebrooculofacioskeletal syndrome 232.1ERCC2, ERCC3, XPC, XRCC1
6lung cancer29.5ERCC1, ERCC2, ERCC4, ERCC5, ERCC6, TP53
7xeroderma pigmentosum, group f12.6
8xeroderma pigmentosum, group g12.6
9xeroderma pigmentosum, group d12.5
10xeroderma pigmentosum, group a12.5
11xeroderma pigmentosum, group e, ddb-negative subtype12.4
12xeroderma pigmentosum-cockayne syndrome complex12.2
13xeroderma pigmentosum, type 912.1
14ercc1-related xeroderma pigmentosum12.0
15xeroderma pigmentosum, type 212.0
16ddb2-related xeroderma pigmentosum12.0
17ercc2-related xeroderma pigmentosum12.0
18ercc3-related xeroderma pigmentosum12.0
19ercc4-related xeroderma pigmentosum12.0
20ercc5-related xeroderma pigmentosum12.0
21polh-related xeroderma pigmentosum12.0
22xpa-related xeroderma pigmentosum12.0
23xpc-related xeroderma pigmentosum12.0
24chromosome xp deletion11.9
25cockayne syndrome, type a11.7
26cockayne syndrome, type b11.2
27cerebrooculofacioskeletal syndrome 311.2
28basal cell carcinoma 111.0
29cerebrooculofacioskeletal syndrome 411.0
30cockayne syndrome10.7
31cone-rod dystrophy x-linked 210.6ERCC6, ERCC8
32uv-sensitive syndrome 210.6ERCC6, ERCC8
33may-thurner syndrome10.5ERCC4, ERCC6, ERCC8
34cockayne syndrome type iii10.5ERCC1, ERCC6, ERCC8
35acrodermatitis enteropathica10.5ERCC1, ERCC2, ERCC3
36asthenopia10.5ERCC2, TP53, XPA
37exostoses, multiple, type 210.4DDB1, DDB2, XPC
38pancreatic cystadenoma10.4ERCC1, ERCC4, XPA
39bullous keratopathy10.4ERCC2, TP53, XPA
40basal cell carcinoma10.4
41combined hyperactive dysfunction syndrome of the cranial nerves10.4ERCC2, ERCC3, ERCC4, ERCC5
42fanconi anemia, complementation group q10.4ERCC1, ERCC4
43aggressive digital papillary adenocarcinoma10.4ERCC1, TP53
443-methylglutaconic aciduria, type i10.4ERCC4, RPA1, XPA, XPC
45stroma-dominant and stroma-poor composite ganglioneuroblastoma10.4ERCC2, TP53, XRCC1
46oral lichen planus10.4ERCC2, TP53, XRCC1
47heavy chain disease10.3ERCC2, POLH, TP53, XPA
48levic stefanovic nikolic syndrome10.3TP53, XRCC1
49angiosarcoma10.3
50mixed cerebral palsy10.3ERCC4, ERCC5, TP53, XRCC1

Graphical network of the top 20 diseases related to Xeroderma Pigmentosum, Variant Type:



Diseases related to xeroderma pigmentosum, variant type

Symptoms & Phenotypes for Xeroderma Pigmentosum, Variant Type

About this section

Symptoms by clinical synopsis from OMIM:

278750

Clinical features from OMIM:

278750

Human phenotypes related to Xeroderma Pigmentosum, Variant Type:

 64 54 (show all 56)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cutaneous photosensitivity64 54 hallmark (90%) Very frequent (99-80%) HP:0000992
2 poikiloderma64 54 hallmark (90%) Very frequent (99-80%) HP:0001029
3 freckling64 hallmark (90%) HP:0001480
4 verrucae64 hallmark (90%) HP:0200043
5 abnormality of the teeth64 hallmark (90%) HP:0000164
6 conjunctival telangiectasia64 hallmark (90%) HP:0000524
7 optic atrophy64 hallmark (90%) HP:0000648
8 dry skin64 54 hallmark (90%) Frequent (79-30%) HP:0000958
9 thin skin64 hallmark (90%) HP:0000963
10 eeg abnormality64 hallmark (90%) HP:0002353
11 developmental regression64 hallmark (90%) HP:0002376
12 arthralgia64 hallmark (90%) HP:0002829
13 abnormality of temperature regulation64 hallmark (90%) HP:0004370
14 cognitive impairment64 hallmark (90%) HP:0100543
15 telangiectasia of the skin64 hallmark (90%) HP:0100585
16 cryptorchidism64 typical (50%) HP:0000028
17 sensorineural hearing impairment64 typical (50%) HP:0000407
18 strabismus64 typical (50%) HP:0000486
19 cataract64 typical (50%) HP:0000518
20 hyperkeratosis64 typical (50%) HP:0000962
21 hypermelanotic macule64 typical (50%) HP:0001034
22 hypopigmented skin patches64 typical (50%) HP:0001053
23 melanoma64 54 typical (50%) Frequent (79-30%) HP:0002861
24 microcephaly64 occasional (7.5%) HP:0000252
25 blepharitis64 occasional (7.5%) HP:0000498
26 photophobia64 54 occasional (7.5%) Frequent (79-30%) HP:0000613
27 melanocytic nevus64 occasional (7.5%) HP:0000995
28 pterygium64 occasional (7.5%) HP:0001059
29 seizures64 occasional (7.5%) HP:0001250
30 hypertonia64 occasional (7.5%) HP:0001276
31 reduced tendon reflexes64 occasional (7.5%) HP:0001315
32 alopecia64 occasional (7.5%) HP:0001596
33 abnormality of extrapyramidal motor function64 occasional (7.5%) HP:0002071
34 cerebral cortical atrophy64 occasional (7.5%) HP:0002120
35 incoordination64 occasional (7.5%) HP:0002311
36 delayed skeletal maturation64 occasional (7.5%) HP:0002750
37 aminoaciduria64 occasional (7.5%) HP:0003355
38 short stature64 occasional (7.5%) HP:0004322
39 craniofacial hyperostosis64 occasional (7.5%) HP:0004493
40 opacification of the corneal stroma64 occasional (7.5%) HP:0007759
41 abnormality of the palpebral fissures64 occasional (7.5%) HP:0008050
42 peripheral neuropathy64 occasional (7.5%) HP:0009830
43 neoplasm of the eye64 occasional (7.5%) HP:0100012
44 neoplasm of the oral cavity64 occasional (7.5%) HP:0100649
45 keratitis64 54 Frequent (79-30%) HP:0000491
46 conjunctivitis64 HP:0000509
47 entropion64 HP:0000621
48 ectropion64 HP:0000656
49 basal cell carcinoma64 54 Frequent (79-30%) HP:0002671
50 squamous cell carcinoma64 54 Frequent (79-30%) HP:0002860
51 dermal atrophy64 54 Frequent (79-30%) HP:0004334
52 cutaneous melanoma64 HP:0012056
53 hyperpigmentation of the skin54 Very frequent (99-80%)
54 telangiectasia54 Frequent (79-30%)
55 hypopigmentation of the skin54 Very frequent (99-80%)
56 freckles in sun-exposed areas54 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00237-A10.2CUL4A, DDB1, DDB2, ERCC8
2GR00103-A-09.8CUL4A, ERCC3, ERCC5, RAD23A, RAD23B, TP53
3GR00250-A-37.2CETN2, DDB1, DDB2, ERCC1, ERCC2, ERCC3
4GR00250-A-16.6CUL4A, DDB2, ERCC1, ERCC4, ERCC6, ERCC8

MGI Mouse Phenotypes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

41 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537510.1ERCC1, ERCC2, ERCC6, RAD23B, TP53, XPA
2MP:00053709.8CUL4A, ERCC1, ERCC4, ERCC5, ERCC6, TP53
3MP:00053869.3ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, RAD23B
4MP:00107719.0DDB2, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6
5MP:00053978.9CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
6MP:00053878.7CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
7MP:00020068.5CUL4A, DDB2, ERCC1, ERCC2, ERCC3, ERCC6
8MP:00053918.4CETN2, DDB1, ERCC2, ERCC6, ERCC8, RAD23B
9MP:00053768.3CUL4A, ERCC1, ERCC2, ERCC5, ERCC6, ERCC8
10MP:00053787.9CETN2, CUL4A, DDB2, ERCC1, ERCC2, ERCC3
11MP:00053847.3CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12MP:00107686.8CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Drugs & Therapeutics for Xeroderma Pigmentosum, Variant Type

About this section

Drugs for Xeroderma Pigmentosum, Variant Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenalidomideapprovedPhase 2718191732-72-6216326
Synonyms:
1-oxo-2-(2,6-Dioxopiperidin-3-yl)-4-aminoisoindoline
191732-72-6
3-(4-Amino-1-oxo-1,3-dihydro-2H-isoindol-2-yl)piperidine-2,6-dione
3-(4-Amino-1-oxoisoindolin-2-yl)piperidine-2,6-dione
3-(7-Amino-3-oxo-1H-isoindol-2-yl)-piperidine-2,6-dione
3-(7-amino-3-oxo-1H-isoindol-2-yl)piperidine-2,6-dione
346670-73-3
443912-14-9
AC-914
AC1L50II
AKOS005146276
ALBB-015321
Bio-0168
C467567
CC 5013
CC-5013
CC-5013, Revlimid, Lenalidomide
CC5013
CDC 501
CDC-501
CDC-5013
CHEMBL848
CID216326
Celgene brand of lenalidomide
D04687
 
DB00480
EC-000.2340
ENMD-0997
I06-0831
IMID-1
IMID-5013
IMiD3
IMiD3 cpd
IMid-1
LS-184040
Lenalidomide
Lenalidomide (USAN/INN)
Lenalidomide [USAN]
MolPort-003-848-370
NCGC00167491-01
NSC747972
Revamid
Revimid
Revlimid
Revlimid (Celgene)
Revlimid (TN)
S1029_Selleck
STK639603
Thalidomide analog CC-5013
UNII-F0P408N6V4
lenalidomide
2Angiogenesis Modulating AgentsPhase 24072
3Immunosuppressive AgentsPhase 212770
4Angiogenesis InhibitorsPhase 24143
5Anti-Infective AgentsPhase 221402
6Anti-Bacterial AgentsPhase 210884
7
Isotretinoinapproved1184759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
D00348
D015474
EINECS 225-296-0
EU-0101081
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
Isotretinoin Retinoic acid
 
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
8Sunscreening Agents113
9Protective Agents7190
10Dermatologic Agents5674
11Radiation-Protective Agents466

Interventional clinical trials:

idNameStatusNCT IDPhase
1T4N5 Liposome Lotion Compared With Placebo Lotion for Preventing Actinic Keratoses in Patients With Xeroderma PigmentosumUnknown statusNCT00002811Phase 3
2Lenalidomide in Kaposi Disease Associated With HIV InfectionTerminatedNCT01282047Phase 2
3Xeroderma Pigmentosum Patient ExperiencesUnknown statusNCT01123694
4Use of an SPF30 Sunscreen and an After-sun-lotion in Skin Cancer Risk PatientsCompletedNCT00555633
5Isotretinoin in Preventing Skin CancerCompletedNCT00025012
6Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or TrichothiodystrophyRecruitingNCT00001813
7Cancer Risk in Carriers of the Gene for Xeroderma PigmentosumRecruitingNCT00046189
8Influence of Genetic Polymorphisms in the Pathogenesis of Endometriosis in Sardinian PopulationNot yet recruitingNCT02388854

Search NIH Clinical Center for Xeroderma Pigmentosum, Variant Type


Cochrane evidence based reviews: xeroderma pigmentosum

Genetic Tests for Xeroderma Pigmentosum, Variant Type

About this section

Genetic tests related to Xeroderma Pigmentosum, Variant Type:

id Genetic test Affiliating Genes
1 Xeroderma Pigmentosum, Variant Type27
2 Xeroderma Pigmentosum27 24 XPC

Anatomical Context for Xeroderma Pigmentosum, Variant Type

About this section

MalaCards organs/tissues related to Xeroderma Pigmentosum, Variant Type:

36
Skin, Eye

Publications for Xeroderma Pigmentosum, Variant Type

About this section

Articles related to Xeroderma Pigmentosum, Variant Type:

idTitleAuthorsYear
1
Three school-age cases of xeroderma pigmentosum variant type. (23651273)
2013
2
Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type. (23630442)
2013
3
Four types of possible founder mutations are responsible for 87% of Japanese patients with Xeroderma pigmentosum variant type. (18703314)
2008
4
Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type. (17344931)
2007

Variations for Xeroderma Pigmentosum, Variant Type

About this section

UniProtKB/Swiss-Prot genetic disease variations for Xeroderma Pigmentosum, Variant Type:

70
id Symbol AA change Variation ID SNP ID
1POLHp.Arg111HisVAR_021227rs758423288
2POLHp.Thr122ProVAR_021228
3POLHp.Gly263ValVAR_021230
4POLHp.Arg361SerVAR_021232
5POLHp.Lys535GluVAR_021234rs56307355
6POLHp.Lys589ThrVAR_021236rs121908565
7POLHp.Arg93ProVAR_070836rs756931657
8POLHp.Val266AspVAR_070837
9POLHp.Gly295ArgVAR_070838
10POLHp.Thr692AlaVAR_070839rs199562456

Clinvar genetic disease variations for Xeroderma Pigmentosum, Variant Type:

5 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1ERCC5NM_000123.3(ERCC5): c.2620G> A (p.Ala874Thr)SNVPathogenicrs121434576GRCh37Chr 13, 103520549: 103520549
2ERCC6NM_000124.3(ERCC6): c.2203C> T (p.Arg735Ter)SNVPathogenicrs121917901GRCh37Chr 10, 50686483: 50686483
3POLHNM_006502.2(POLH): c.764+1G> ASNVPathogenicrs772570523GRCh38Chr 6, 43601092: 43601092
4POLHNM_006502.2(POLH): c.907C> T (p.Arg303Ter)SNVPathogenicrs759607901GRCh38Chr 6, 43604637: 43604637
5POLHNM_006502.2(POLH): c.490G> T (p.Glu164Ter)SNVPathogenicrs767433001GRCh37Chr 6, 43555226: 43555226
6POLHNM_006502.2(POLH): c.725C> G (p.Ser242Ter)SNVPathogenicrs745778317GRCh37Chr 6, 43568789: 43568789
7POLHNM_006502.2(POLH): c.1661delA (p.Asn555Thrfs)deletionPathogenicrs886039225GRCh37Chr 6, 43581813: 43581813
8POLHundetermined variantPathogenicChr na, -1: -1
9POLHPOLH, 13-BP DEL, NT343deletionPathogenicChr na, -1: -1
10POLHPOLH, 4-BP DEL, NT289deletionPathogenicChr na, -1: -1
11POLHPOLH, 2-BP DEL, NT770deletionPathogenicChr na, -1: -1
12POLHNM_006502.2(POLH): c.916G> T (p.Glu306Ter)SNVPathogenicrs121908562GRCh37Chr 6, 43572383: 43572383
13POLHPOLH, DEL AND TRP297TERdeletionPathogenicChr na, -1: -1
14POLHNM_006502.2(POLH): c.376C> T (p.Gln126Ter)SNVPathogenicrs121908563GRCh37Chr 6, 43555112: 43555112
15POLHNM_006502.2(POLH): c.1117C> T (p.Gln373Ter)SNVPathogenicrs121908564GRCh37Chr 6, 43578333: 43578333
16POLHPOLH, 104-BP DEL, NT661deletionPathogenicChr na, -1: -1
17POLHPOLH, 1-BP DEL, 207GdeletionPathogenicChr na, -1: -1
18POLHPOLH, 3-BP DEL, NT222deletionPathogenicChr na, -1: -1
19POLHNM_006502.2(POLH): c.1603A> G (p.Lys535Glu)SNVPathogenicrs56307355GRCh37Chr 6, 43581755: 43581755
20POLHNM_006502.2(POLH): c.1766A> C (p.Lys589Thr)SNVPathogenicrs121908565GRCh37Chr 6, 43581918: 43581918

Expression for genes affiliated with Xeroderma Pigmentosum, Variant Type

About this section
Search GEO for disease gene expression data for Xeroderma Pigmentosum, Variant Type.

Pathways for genes affiliated with Xeroderma Pigmentosum, Variant Type

About this section

Pathways related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
10.0ERCC2, ERCC3, ERCC6
2
Show member pathways
9.7ERCC1, ERCC4, POLH, RPA1
3
Show member pathways
9.7DDB2, ERCC5, TP53, XPC
49.5ERCC2, ERCC3, TP53, XPA, XPC
5
Show member pathways
9.5CETN2, RPA1, TP53, XPC
6
Show member pathways
9.4ERCC1, ERCC4, POLH, RPA1, XRCC3
79.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC6, POLH
8
Show member pathways
9.2CUL4A, DDB1, POLH, RPA1, XRCC1
9
Show member pathways
7.9ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
107.4DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
11
Show member pathways
6.8CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
12
Show member pathways
6.6CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
13
Show member pathways
5.9CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

GO Terms for genes affiliated with Xeroderma Pigmentosum, Variant Type

About this section

Cellular components related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1core TFIIH complexGO:000043910.9ERCC2, ERCC3
2ERCC4-ERCC1 complexGO:007052210.9ERCC1, ERCC4
3Cul4B-RING E3 ubiquitin ligase complexGO:003146510.8DDB1, DDB2
4holo TFIIH complexGO:000567510.8ERCC2, ERCC3, ERCC5
5DNA replication factor A complexGO:000566210.7ERCC5, RPA1, XPA
6nucleotide-excision repair factor 1 complexGO:000011010.7ERCC1, ERCC4, XPA
7Cul4-RING E3 ubiquitin ligase complexGO:008000810.7CUL4A, DDB1
8nucleotide-excision repair complexGO:000010910.6ERCC1, ERCC4, ERCC8
9Cul4A-RING E3 ubiquitin ligase complexGO:003146410.4CUL4A, DDB1, ERCC8
10replication forkGO:000565710.4TP53, XRCC3
11nuclear chromosome, telomeric regionGO:000078410.1DDB1, ERCC1, ERCC4, RPA1, XRCC3
12transcription factor TFIID complexGO:00056699.8ERCC1, ERCC4, TP53
13XPC complexGO:00719429.8CETN2, RAD23B, XPC
14nucleusGO:00056347.3DDB1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
15nucleoplasmGO:00056547.0CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Biological processes related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1hair cell differentiationGO:003531510.8ERCC2, ERCC3
2nucleotide-excision repair involved in interstrand cross-link repairGO:190125510.8ERCC4, XPA
3response to auditory stimulusGO:001099610.8XPA, XPC
4response to UV-BGO:001022410.8ERCC6, XPC
5response to UV-CGO:001022510.8ERCC5, POLH
6error-free translesion synthesisGO:007098710.8POLH, RPA1
7negative regulation of telomere maintenanceGO:003220510.8ERCC1, ERCC4
8histone H2A monoubiquitinationGO:003551810.7DDB1, DDB2
9pyrimidine dimer repairGO:000629010.7DDB2, ERCC6, POLH
10t-circle formationGO:009065610.6ERCC1, XRCC3
11transcription elongation from RNA polymerase I promoterGO:000636210.6ERCC2, ERCC3, ERCC6
12embryonic organ developmentGO:004856810.6ERCC1, ERCC3, RAD23B
13regulation of proteasomal ubiquitin-dependent protein catabolic processGO:003243410.6RAD23A, RAD23B
14DNA recombinationGO:000631010.5ERCC1, RPA1, XRCC3
15multicellular organism growthGO:003526410.5ERCC1, ERCC2, ERCC6, XPA
16DNA damage response, detection of DNA damageGO:004276910.3CUL4A, DDB1, RPA1
17regulation of mitotic cell cycle phase transitionGO:190199010.3DDB1, ERCC2, ERCC3, XPC
18UV-damage excision repairGO:007091410.3DDB1, DDB2, XPA, XPC
19interstrand cross-link repairGO:003629710.3ERCC1, ERCC4, RPA1, XRCC3
20double-strand break repair via homologous recombinationGO:000072410.3ERCC4, RPA1, XRCC1, XRCC3
21response to X-rayGO:001016510.3ERCC1, ERCC6, ERCC8, TP53
22UV protectionGO:000965010.2ERCC1, ERCC2, ERCC3, ERCC4, ERCC5
23protein sumoylationGO:001692510.2CETN2, RPA1, TP53, XPC
24base-excision repairGO:000628410.2ERCC6, RPA1, TP53, XPA, XRCC1
25response to oxidative stressGO:000697910.0ERCC1, ERCC2, ERCC3, ERCC6, ERCC8, XPA
26response to UVGO:00094119.6DDB2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6
27nucleotide-excision repair, DNA damage recognitionGO:00007159.5CETN2, CUL4A, DDB1, DDB2, RAD23B, XPA
28proteasome-mediated ubiquitin-dependent protein catabolic processGO:00431619.4CUL4A, DDB1, ERCC8, RAD23A, RAD23B, TP53
29nucleotide-excision repair, DNA duplex unwindingGO:00007179.1CETN2, CUL4A, DDB1, DDB2, ERCC2, ERCC3
30nucleotide-excision repair, DNA incisionGO:00336839.0CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
31nucleotide-excision repair, DNA incision, 3-to lesionGO:00062959.0CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
32nucleotide-excision repair, DNA incision, 5-to lesionGO:00062969.0CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
33nucleotide-excision repair, preincision complex stabilizationGO:00062939.0CUL4A, DDB1, DDB2, ERCC1, ERCC2, ERCC3
34viral processGO:00160328.8CUL4A, DDB1, ERCC2, ERCC3, RAD23A, TP53
35cellular response to DNA damage stimulusGO:00069748.7CUL4A, ERCC1, ERCC6, ERCC8, RAD23A, RAD23B
36global genome nucleotide-excision repairGO:00709118.7CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2
37nucleotide-excision repair, preincision complex assemblyGO:00062948.7CETN2, CUL4A, DDB1, DDB2, ERCC2, ERCC3
38DNA repairGO:00062818.5DDB1, DDB2, ERCC1, ERCC2, ERCC3, ERCC4
39transcription-coupled nucleotide-excision repairGO:00062838.5CUL4A, DDB1, ERCC1, ERCC2, ERCC3, ERCC4
40nucleotide-excision repairGO:00062897.9CETN2, DDB1, DDB2, ERCC1, ERCC2, ERCC3

Molecular functions related to Xeroderma Pigmentosum, Variant Type according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bubble DNA bindingGO:000040511.0ERCC5, XPC
2endodeoxyribonuclease activityGO:000452010.9ERCC4, ERCC5
3RNA polymerase II carboxy-terminal domain kinase activityGO:000835310.6ERCC2, ERCC3
4double-stranded DNA bindingGO:000369010.6ERCC5, TP53, XRCC3
5single-stranded DNA endodeoxyribonuclease activityGO:000001410.4ERCC1, ERCC4
6DNA-dependent ATPase activityGO:000809410.2ERCC2, ERCC3, ERCC6, ERCC8, XRCC3
7structure-specific DNA bindingGO:004356610.2ERCC1, ERCC4
8protein C-terminus bindingGO:000802210.1ERCC1, ERCC2, ERCC3, ERCC4, ERCC6
9TFIID-class transcription factor bindingGO:000109410.1ERCC1, ERCC4
10protein N-terminus bindingGO:00474859.9ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, TP53
11single-stranded DNA bindingGO:00036979.0ERCC1, ERCC4, ERCC5, RAD23A, RAD23B, RPA1
12damaged DNA bindingGO:00036848.4DDB1, DDB2, ERCC1, ERCC3, ERCC4, POLH
13protein bindingGO:00055156.5CETN2, CUL4A, DDB1, DDB2, ERCC1, ERCC2

Sources for Xeroderma Pigmentosum, Variant Type

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet